Coexistence of polymyositis and familial Mediterranean fever

Vol.23 No.2

Case Report

Coexistence of polymyositis and familial Mediterranean fever

Authors

Mami Eguchi¹ , Taiichiro Miyashita¹ , Haruka Shirouzu¹ , Saya Sato¹ , Yasumori Izumi¹ , Atsushi Takeoka¹ , Tadayoshi Ohno¹ , Remi Sumiyoshi¹ , Ayako Nishino¹ , Yuka Jiuchi¹ , Fumiaki Nonaka² , Katsumi Eguchi², Atsushi Kawakami³, Kiyoshi Migita¹

Department of General Internal Medicine and Rheumatology, Clinical Research Center, NHO National Nagasaki Medical Center, Kubara 2-1001-1, Omura, 856-8652, Japan
Department of Rheumatology, Sasebo City General Hospital, Sasebo, Japan
Department of Rheumatology, Nagasaki University Hospital, Nagasaki, Japan

Received:

12 January 2012

Accepted:

29 March 2012

Published online:

25 April 2012

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Abstract

Familial Mediterranean fever (FMF) is an autosomal recessive disease affecting populations surrounding the Mediterranean area. In this case report, we report a Japanese female patient with polymyositis (PM) who presented with periodic fever. Genetic analysis revealed that she had compound heterozygous mutations in exon 2 of the MEFV gene (L110P/E148Q/R202Q). Treatment with colchicines (1.0 mg/day) successfully eliminated febrile attack and normalized the elevated levels of neutrophil CD64 expression, leading to the diagnosis of FMF. The association of FMF and PM has not previously been reported, so we discuss this rare association.

Key words

Familial Mediterranean fever - CD64 - MEFV gene - Polymyositis